ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.327+5C>T

gnomAD frequency: 0.00001  dbSNP: rs1489553949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235847 SCV001408553 uncertain significance Cerebral creatine deficiency syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the GAMT gene. It does not directly change the encoded amino acid sequence of the GAMT protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GAMT-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001834049 SCV002087038 uncertain significance Deficiency of guanidinoacetate methyltransferase 2021-09-09 no assertion criteria provided clinical testing

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